Genome Sequencer FLX

描述（由申请人提供）：454/Roche GS-FLX焦磷酸测序仪将用于高通量DNA测序，用于要求长读取（bb0 400 nt）的高精度应用。该测序技术的技术和特点与Solexa/Illumina基因组测序仪等测序仪明显不同，后者提供较短（<75 nt）的读取长度，错误率较高。获得高精度长读长度的能力为许多应用提供了几个关键优势，包括(1)新基因组的测序，(2)缺乏测序或良好定位基因组的生物体的EST和转录组表征，以及(3)替代前mrna剪接的分析。454/Roche长读测序技术将应用于nih资助的各种项目以及与生物医学科学高度相关的其他项目，包括涉及感官知觉的多基因家族的表征；选择性前mrna剪接模式和机制的阐明；人类发育和疾病的遗传和进化模型的基因组特征；与癌症相关的基因位点分析；研究哺乳动物细胞对营养离子和环境毒素的敏感性。加州大学伯克利分校目前没有454 DNA测序仪；FGL获得这种仪器将支持研究人员进行这些项目，这些项目有望阐明人类生物学和疾病的基本机制。

DESCRIPTION (provided by applicant): The 454/Roche GS-FLX pyrosequencer will be used for high-throughput DNA sequencing in applications demanding long reads (>400 nt) at high accuracy. The technology and characteristics of this sequencing technology is markedly different than for sequencers such as the Solexa/Illumina Genome Sequencer, which provide short (<75 nt) read lengths with a higher error rate. The ability to obtain long read lengths with high accuracy affords several critical advantages for a number of applications, including (1) the sequencing of novel genomes, (2) EST and transcriptome characterization in organisms lacking a sequenced or well-mapped genome, and (3) the analysis of alternative pre-mRNA splicing. The 454/Roche long-read sequencing technology will be applied to a diverse array of NIH-funded projects as well as other projects of high relevance to biomedical science, including the characterization of multigene families involved in sensory perception; the elucidation of the patterns and mechanisms of alternative pre-mRNA splicing; the characterization of genomes of genetic and evolutionary models of human development and disease; an analysis of the genetic loci associated with cancer; and an investigation of the susceptibility of mammalian cells to nutritional ions and environmental toxins. There are currently no 454 DNA sequencers on the UC Berkeley campus; acquisition of this instrumentation by the FGL will support researchers pursuing these projects, which promise to illuminate the fundamental mechanisms underlying human biology and disease.